Friday, December 14, 2018

Neurology/Neuroscience Research Seminar presented by Donna M. Martin, MD, PHD - Friday, December 14 -

11:45 AM to 1:00 PM

Biomedical Science Research Building (BSRB), Room 5515, 109 Zina Pitcher Place, Ann Arbor, MI 48109



CHARGE Syndrome: from gene discovery to mechanistic insights

This seminar will describe our research on the genetic basis of nervous system development and disorders affecting human hearing and behavior. A major area of research is the genetics of CHARGE syndrome, a condition that presents at birth with hearing and vision loss, heart defects, and craniofacial disorders including cleft palate and airway obstruction.  CHARGE is caused in most cases by mutations in the ATP dependent chromatin remodeler CHD7.  We also use genetic approaches in mice to study how loss of Chd7 disrupts organ development, and stem cell based models to explore potential therapies for CHARGE and other genetic disorder affecting nervous system development. Our group also leads collaborative studies to identify genetic mechanisms of neurodevelopmental disorders. 

Donna Martin, M.D., Ph.D.

Donna Martin, M.D., Ph.D.

Chair, Department of Pediatrics
Ravitz Foundation Endowed Professor of Pediatrics and Communicable Diseases
Professor of Human Genetics
(734) 647-4859